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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828152114
Gene: TPM3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42115
ClinVar RCV Id:
RCV000034943
RCV000128702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351612.1:p.Lys132Glu
CA232689
NM_001364683.1:c.394A>G